Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine

Glycine is a major neurotransmitter that activates inhibitory glycine receptors and is a co-agonist for excitatory glutamatergic N-methyl-D-aspartate (NMDA) receptors. Two transporters, GLYT1 and GLYT2, regulate extracellular glycine concentrations within the CNS. Dysregulation of the extracellular...

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Pubblicato in:Am J Hum Genet
Autori principali: Kurolap, Alina, Armbruster, Anja, Hershkovitz, Tova, Hauf, Katharina, Mory, Adi, Paperna, Tamar, Hannappel, Ewald, Tal, Galit, Nijem, Yusif, Sella, Ella, Mahajnah, Muhammad, Ilivitzki, Anat, Hershkovitz, Dov, Ekhilevitch, Nina, Mandel, Hanna, Eulenburg, Volker, Baris, Hagit N.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5097939/
https://ncbi.nlm.nih.gov/pubmed/27773429
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.09.004
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